Progress in phenylketonuria: defects in the metabolism of biopterin

Although progress in a major biological frontier, the neurosciences, has been both rapid and broadly based, it has offered little to the practical pediatrician. Some recent reports may forecast a change. Careful study of an old subject, phenylketonuria (PKU), has opened up a new area of research tha...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1980-04, Vol.65 (4), p.837-839
Main Author: Berlow, S
Format: Article
Language:English
Subjects:
Biopterins - metabolism
Child
Humans
Infant
Infant, Newborn
Phenylalanine - blood
Phenylketonurias - metabolism
Phenylketonurias - urine
Pteridines - metabolism
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Summary:Although progress in a major biological frontier, the neurosciences, has been both rapid and broadly based, it has offered little to the practical pediatrician. Some recent reports may forecast a change. Careful study of an old subject, phenylketonuria (PKU), has opened up a new area of research that has great potential significance. Five years ago in London, Smith et al1 described three children with "PKU" who had an unusual clinical course. Despite early diagnosis and treatment with a low phenylalanine diet, these patients developed progressive neurological disease and died. The atypical course, a high tolerance for phenylalanine, and normal phenylalanine hydroxylase activity on liver biopsy in one of the children led them to the astute speculation that this syndrome was a new form of "hyperphenylalaninemia" probably due to a defect in the metabolism of biopterin.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.65.4.837